Name: rs2306985
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs2306985

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:99594865 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.492478 (130354/264690, TOPMED)
G=0.394351 (99042/251152, GnomAD_exome)
G=0.472119 (66056/139914, GnomAD) (+ 24 more)
G=0.402769 (48847/121278, ExAC)
G=0.393717 (45583/115776, ALFA)
C=0.44310 (34850/78650, PAGE_STUDY)
C=0.31616 (8934/28258, 14KJPN)
C=0.31754 (5322/16760, 8.3KJPN)
G=0.48954 (6367/13006, GO-ESP)
C=0.4588 (2938/6404, 1000G_30x)
C=0.4577 (2292/5008, 1000G)
G=0.2859 (1281/4480, Estonian)
G=0.3656 (1409/3854, ALSPAC)
G=0.3611 (1339/3708, TWINSUK)
C=0.2754 (807/2930, KOREAN)
C=0.2784 (510/1832, Korea1K)
G=0.334 (333/998, GoNL)
C=0.324 (256/790, PRJEB37584)
C=0.357 (220/616, Vietnamese)
G=0.342 (205/600, NorthernSweden)
G=0.401 (214/534, MGP)
C=0.278 (99/356, SGDP_PRJ)
C=0.384 (126/328, HapMap)
G=0.250 (76/304, FINRISK)
C=0.421 (91/216, Qatari)
G=0.45 (18/40, GENOME_DK)
C=0.36 (13/36, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MTTP : Missense Variant
Publications: 2 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	115776	C=0.606283	G=0.393717
European	Sub	98018	C=0.62929	G=0.37071
African	Sub	4370	C=0.2709	G=0.7291
African Others	Sub	174	C=0.195	G=0.805
African American	Sub	4196	C=0.2741	G=0.7259
Asian	Sub	3302	C=0.4070	G=0.5930
East Asian	Sub	2646	C=0.3133	G=0.6867
Other Asian	Sub	656	C=0.785	G=0.215
Latin American 1	Sub	786	C=0.461	G=0.539
Latin American 2	Sub	944	C=0.722	G=0.278
South Asian	Sub	274	C=0.580	G=0.420
Other	Sub	8082	C=0.5914	G=0.4086

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.507522	G=0.492478
gnomAD - Exomes	Global	Study-wide	251152	C=0.605649	G=0.394351
gnomAD - Exomes	European	Sub	135132	C=0.669908	G=0.330092
gnomAD - Exomes	Asian	Sub	49002	C=0.49533	G=0.50467
gnomAD - Exomes	American	Sub	34558	C=0.73511	G=0.26489
gnomAD - Exomes	African	Sub	16254	C=0.24148	G=0.75852
gnomAD - Exomes	Ashkenazi Jewish	Sub	10072	C=0.42117	G=0.57883
gnomAD - Exomes	Other	Sub	6134	C=0.6099	G=0.3901
gnomAD - Genomes	Global	Study-wide	139914	C=0.527881	G=0.472119
gnomAD - Genomes	European	Sub	75796	C=0.66734	G=0.33266
gnomAD - Genomes	African	Sub	41936	C=0.25906	G=0.74094
gnomAD - Genomes	American	Sub	13600	C=0.63684	G=0.36316
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.4250	G=0.5750
gnomAD - Genomes	East Asian	Sub	3116	C=0.3835	G=0.6165
gnomAD - Genomes	Other	Sub	2146	C=0.5336	G=0.4664
ExAC	Global	Study-wide	121278	C=0.597231	G=0.402769
ExAC	Europe	Sub	73296	C=0.65507	G=0.34493
ExAC	Asian	Sub	25140	C=0.50326	G=0.49674
ExAC	American	Sub	11530	C=0.74883	G=0.25117
ExAC	African	Sub	10404	C=0.24769	G=0.75231
ExAC	Other	Sub	908	C=0.610	G=0.390
Allele Frequency Aggregator	Total	Global	115776	C=0.606283	G=0.393717
Allele Frequency Aggregator	European	Sub	98018	C=0.62929	G=0.37071
Allele Frequency Aggregator	Other	Sub	8082	C=0.5914	G=0.4086
Allele Frequency Aggregator	African	Sub	4370	C=0.2709	G=0.7291
Allele Frequency Aggregator	Asian	Sub	3302	C=0.4070	G=0.5930
Allele Frequency Aggregator	Latin American 2	Sub	944	C=0.722	G=0.278
Allele Frequency Aggregator	Latin American 1	Sub	786	C=0.461	G=0.539
Allele Frequency Aggregator	South Asian	Sub	274	C=0.580	G=0.420
The PAGE Study	Global	Study-wide	78650	C=0.44310	G=0.55690
The PAGE Study	AfricanAmerican	Sub	32494	C=0.27070	G=0.72930
The PAGE Study	Mexican	Sub	10802	C=0.71589	G=0.28411
The PAGE Study	Asian	Sub	8318	C=0.3521	G=0.6479
The PAGE Study	PuertoRican	Sub	7914	C=0.5497	G=0.4503
The PAGE Study	NativeHawaiian	Sub	4530	C=0.6382	G=0.3618
The PAGE Study	Cuban	Sub	4226	C=0.5386	G=0.4614
The PAGE Study	Dominican	Sub	3826	C=0.4198	G=0.5802
The PAGE Study	CentralAmerican	Sub	2448	C=0.6642	G=0.3358
The PAGE Study	SouthAmerican	Sub	1978	C=0.7017	G=0.2983
The PAGE Study	NativeAmerican	Sub	1260	C=0.6040	G=0.3960
The PAGE Study	SouthAsian	Sub	854	C=0.578	G=0.422
14KJPN	JAPANESE	Study-wide	28258	C=0.31616	G=0.68384
8.3KJPN	JAPANESE	Study-wide	16760	C=0.31754	G=0.68246
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.51046	G=0.48954
GO Exome Sequencing Project	European American	Sub	8600	C=0.6360	G=0.3640
GO Exome Sequencing Project	African American	Sub	4406	C=0.2653	G=0.7347
1000Genomes_30x	Global	Study-wide	6404	C=0.4588	G=0.5412
1000Genomes_30x	African	Sub	1786	C=0.1809	G=0.8191
1000Genomes_30x	Europe	Sub	1266	C=0.6777	G=0.3223
1000Genomes_30x	South Asian	Sub	1202	C=0.5566	G=0.4434
1000Genomes_30x	East Asian	Sub	1170	C=0.3385	G=0.6615
1000Genomes_30x	American	Sub	980	C=0.706	G=0.294
1000Genomes	Global	Study-wide	5008	C=0.4577	G=0.5423
1000Genomes	African	Sub	1322	C=0.1831	G=0.8169
1000Genomes	East Asian	Sub	1008	C=0.3294	G=0.6706
1000Genomes	Europe	Sub	1006	C=0.6849	G=0.3151
1000Genomes	South Asian	Sub	978	C=0.560	G=0.440
1000Genomes	American	Sub	694	C=0.693	G=0.307
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7141	G=0.2859
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6344	G=0.3656
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6389	G=0.3611
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2754	G=0.7246
Korean Genome Project	KOREAN	Study-wide	1832	C=0.2784	G=0.7216
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.666	G=0.334
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.324	G=0.676
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.324	G=0.676
A Vietnamese Genetic Variation Database	Global	Study-wide	616	C=0.357	G=0.643
Northern Sweden	ACPOP	Study-wide	600	C=0.658	G=0.342
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.599	G=0.401
SGDP_PRJ	Global	Study-wide	356	C=0.278	G=0.722
HapMap	Global	Study-wide	328	C=0.384	G=0.616
HapMap	African	Sub	120	C=0.150	G=0.850
HapMap	American	Sub	120	C=0.658	G=0.342
HapMap	Asian	Sub	88	C=0.33	G=0.67
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.750	G=0.250
Qatari	Global	Study-wide	216	C=0.421	G=0.579
The Danish reference pan genome	Danish	Study-wide	40	C=0.55	G=0.45
Siberian	Global	Study-wide	36	C=0.36	G=0.64

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 4	NC_000004.12:g.99594865C>G
GRCh37.p13 chr 4	NC_000004.11:g.100516022C>G
MTTP RefSeqGene	NG_011469.1:g.35783C>G

Gene: MTTP, microsomal triglyceride transfer protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MTTP transcript variant 1	NM_000253.4:c.891C>G	H [CAC] > Q [CAG]	Coding Sequence Variant
microsomal triglyceride transfer protein large subunit isoform 1 precursor	NP_000244.2:p.His297Gln	H (His) > Q (Gln)	Missense Variant
MTTP transcript variant 3	NM_001386140.1:c.891C>G	H [CAC] > Q [CAG]	Coding Sequence Variant
microsomal triglyceride transfer protein large subunit isoform 1 precursor	NP_001373069.1:p.His297Gln	H (His) > Q (Gln)	Missense Variant
MTTP transcript variant 2	NM_001300785.2:c.642C>G	H [CAC] > Q [CAG]	Coding Sequence Variant
microsomal triglyceride transfer protein large subunit isoform 2	NP_001287714.2:p.His214Gln	H (His) > Q (Gln)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 135074 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000117640.7	not specified	Likely-Benign
RCV000348296.8	Abetalipoproteinaemia	Benign
RCV001522093.7	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	G
GRCh38.p14 chr 4	NC_000004.12:g.99594865=	NC_000004.12:g.99594865C>G
GRCh37.p13 chr 4	NC_000004.11:g.100516022=	NC_000004.11:g.100516022C>G
MTTP RefSeqGene	NG_011469.1:g.35783=	NG_011469.1:g.35783C>G
MTTP transcript variant 1	NM_000253.4:c.891=	NM_000253.4:c.891C>G
MTTP transcript variant 1	NM_000253.3:c.891=	NM_000253.3:c.891C>G
MTTP transcript	NM_000253.2:c.891=	NM_000253.2:c.891C>G
MTTP transcript variant 2	NM_001300785.2:c.642=	NM_001300785.2:c.642C>G
MTTP transcript variant 2	NM_001300785.1:c.972=	NM_001300785.1:c.972C>G
MTTP transcript variant 3	NM_001386140.1:c.891=	NM_001386140.1:c.891C>G
microsomal triglyceride transfer protein large subunit isoform 1 precursor	NP_000244.2:p.His297=	NP_000244.2:p.His297Gln
microsomal triglyceride transfer protein large subunit isoform 2	NP_001287714.2:p.His214=	NP_001287714.2:p.His214Gln
microsomal triglyceride transfer protein large subunit isoform 1 precursor	NP_001373069.1:p.His297=	NP_001373069.1:p.His297Gln

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

147 SubSNP, 27 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3254694	Sep 28, 2001 (100)
2	WI_SSAHASNP	ss11684928	Jul 11, 2003 (116)
3	SSAHASNP	ss22088837	Apr 05, 2004 (121)
4	IMCJ-GDT	ss22887573	Apr 05, 2004 (121)
5	PERLEGEN	ss24366024	Sep 20, 2004 (123)
6	ABI	ss44554337	Mar 13, 2006 (126)
7	APPLERA_GI	ss48430019	Mar 13, 2006 (126)
8	ILLUMINA	ss65726838	Oct 16, 2006 (127)
9	PERLEGEN	ss68906302	May 18, 2007 (127)
10	AFFY	ss74809309	Aug 16, 2007 (128)
11	HGSV	ss80423078	Dec 14, 2007 (130)
12	HUMANGENOME_JCVI	ss98848107	Feb 03, 2009 (130)
13	BGI	ss104099168	Dec 01, 2009 (131)
14	1000GENOMES	ss110294488	Jan 24, 2009 (130)
15	ILLUMINA-UK	ss117114556	Feb 14, 2009 (130)
16	ENSEMBL	ss135207205	Dec 01, 2009 (131)
17	GMI	ss157653903	Dec 01, 2009 (131)
18	SEATTLESEQ	ss159708141	Dec 01, 2009 (131)
19	ILLUMINA	ss160535012	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss162382555	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss163920978	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss166946811	Jul 04, 2010 (132)
23	BUSHMAN	ss198924270	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss206352850	Jul 04, 2010 (132)
25	1000GENOMES	ss221100000	Jul 14, 2010 (132)
26	1000GENOMES	ss232516233	Jul 14, 2010 (132)
27	1000GENOMES	ss239780910	Jul 15, 2010 (132)
28	ILLUMINA	ss244289976	Jul 04, 2010 (132)
29	GMI	ss277845503	May 04, 2012 (137)
30	GMI	ss284968270	Apr 25, 2013 (138)
31	PJP	ss293148035	May 09, 2011 (134)
32	NHLBI-ESP	ss342168433	May 09, 2011 (134)
33	ILLUMINA	ss481354426	Sep 08, 2015 (146)
34	ILLUMINA	ss483996143	May 04, 2012 (137)
35	ILLUMINA	ss484659672	May 04, 2012 (137)
36	1000GENOMES	ss490892028	May 04, 2012 (137)
37	EXOME_CHIP	ss491358954	May 04, 2012 (137)
38	CLINSEQ_SNP	ss491857861	May 04, 2012 (137)
39	ILLUMINA	ss536189294	Sep 08, 2015 (146)
40	TISHKOFF	ss557722974	Apr 25, 2013 (138)
41	SSMP	ss651527280	Apr 25, 2013 (138)
42	ILLUMINA	ss780634467	Aug 21, 2014 (142)
43	ILLUMINA	ss780831176	Aug 21, 2014 (142)
44	ILLUMINA	ss782442343	Aug 21, 2014 (142)
45	ILLUMINA	ss783514136	Aug 21, 2014 (142)
46	ILLUMINA	ss783603841	Aug 21, 2014 (142)
47	ILLUMINA	ss836128453	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss974453484	Aug 21, 2014 (142)
49	EVA-GONL	ss980453143	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1067463187	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1071789244	Aug 21, 2014 (142)
52	1000GENOMES	ss1310989076	Aug 21, 2014 (142)
53	DDI	ss1429983795	Apr 01, 2015 (144)
54	CLINVAR	ss1457614645	Nov 23, 2014 (142)
55	EVA_GENOME_DK	ss1580688784	Apr 01, 2015 (144)
56	EVA_FINRISK	ss1584035553	Apr 01, 2015 (144)
57	EVA_DECODE	ss1589957273	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1610741943	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1653735976	Apr 01, 2015 (144)
60	EVA_EXAC	ss1687585758	Apr 01, 2015 (144)
61	EVA_MGP	ss1711067347	Apr 01, 2015 (144)
62	ILLUMINA	ss1752489395	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1801913116	Sep 08, 2015 (146)
64	ILLUMINA	ss1917783206	Feb 12, 2016 (147)
65	WEILL_CORNELL_DGM	ss1923692973	Feb 12, 2016 (147)
66	ILLUMINA	ss1946123164	Feb 12, 2016 (147)
67	ILLUMINA	ss1958707228	Feb 12, 2016 (147)
68	GENOMED	ss1969817499	Jul 19, 2016 (147)
69	JJLAB	ss2022432688	Sep 14, 2016 (149)
70	USC_VALOUEV	ss2150561894	Dec 20, 2016 (150)
71	HUMAN_LONGEVITY	ss2265445506	Dec 20, 2016 (150)
72	SYSTEMSBIOZJU	ss2625715288	Nov 08, 2017 (151)
73	ILLUMINA	ss2634154868	Nov 08, 2017 (151)
74	GRF	ss2706038455	Nov 08, 2017 (151)
75	CBI	ss2729283739	Nov 08, 2017 (151)
76	GNOMAD	ss2734651952	Nov 08, 2017 (151)
77	GNOMAD	ss2747279453	Nov 08, 2017 (151)
78	GNOMAD	ss2812881778	Nov 08, 2017 (151)
79	AFFY	ss2985298984	Nov 08, 2017 (151)
80	SWEGEN	ss2995214725	Nov 08, 2017 (151)
81	ILLUMINA	ss3022398888	Nov 08, 2017 (151)
82	EVA_SAMSUNG_MC	ss3023060787	Nov 08, 2017 (151)
83	BIOINF_KMB_FNS_UNIBA	ss3024991658	Nov 08, 2017 (151)
84	CSHL	ss3345863218	Nov 08, 2017 (151)
85	ILLUMINA	ss3629026113	Oct 12, 2018 (152)
86	ILLUMINA	ss3629026114	Oct 12, 2018 (152)
87	ILLUMINA	ss3632089176	Oct 12, 2018 (152)
88	ILLUMINA	ss3634963636	Oct 12, 2018 (152)
89	ILLUMINA	ss3636667937	Oct 12, 2018 (152)
90	ILLUMINA	ss3640670929	Oct 12, 2018 (152)
91	ILLUMINA	ss3644855960	Oct 12, 2018 (152)
92	OMUKHERJEE_ADBS	ss3646310759	Oct 12, 2018 (152)
93	URBANLAB	ss3647803312	Oct 12, 2018 (152)
94	ILLUMINA	ss3652885153	Oct 12, 2018 (152)
95	ILLUMINA	ss3654070857	Oct 12, 2018 (152)
96	EGCUT_WGS	ss3663110881	Jul 13, 2019 (153)
97	EVA_DECODE	ss3712661841	Jul 13, 2019 (153)
98	ILLUMINA	ss3726155957	Jul 13, 2019 (153)
99	ACPOP	ss3731424322	Jul 13, 2019 (153)
100	ILLUMINA	ss3744528193	Jul 13, 2019 (153)
101	ILLUMINA	ss3745263892	Jul 13, 2019 (153)
102	EVA	ss3762169710	Jul 13, 2019 (153)
103	PAGE_CC	ss3771142785	Jul 13, 2019 (153)
104	ILLUMINA	ss3772758430	Jul 13, 2019 (153)
105	PACBIO	ss3784802465	Jul 13, 2019 (153)
106	PACBIO	ss3790247042	Jul 13, 2019 (153)
107	PACBIO	ss3795122441	Jul 13, 2019 (153)
108	KHV_HUMAN_GENOMES	ss3805318123	Jul 13, 2019 (153)
109	EVA	ss3824035470	Apr 26, 2020 (154)
110	EVA	ss3825522045	Apr 26, 2020 (154)
111	EVA	ss3825538322	Apr 26, 2020 (154)
112	EVA	ss3825661772	Apr 26, 2020 (154)
113	EVA	ss3828705110	Apr 26, 2020 (154)
114	SGDP_PRJ	ss3859615714	Apr 26, 2020 (154)
115	KRGDB	ss3905893046	Apr 26, 2020 (154)
116	KOGIC	ss3954746342	Apr 26, 2020 (154)
117	FSA-LAB	ss3984290155	Apr 26, 2021 (155)
118	FSA-LAB	ss3984290156	Apr 26, 2021 (155)
119	EVA	ss3984532325	Apr 26, 2021 (155)
120	EVA	ss3986287457	Apr 26, 2021 (155)
121	TOPMED	ss4624726853	Apr 26, 2021 (155)
122	EVA	ss5141912348	Apr 26, 2021 (155)
123	TOMMO_GENOMICS	ss5167088330	Apr 26, 2021 (155)
124	EVA	ss5237183005	Apr 26, 2021 (155)
125	EVA	ss5237642581	Oct 13, 2022 (156)
126	1000G_HIGH_COVERAGE	ss5260296368	Oct 13, 2022 (156)
127	TRAN_CS_UWATERLOO	ss5314411115	Oct 13, 2022 (156)
128	EVA	ss5314977735	Oct 13, 2022 (156)
129	EVA	ss5350990525	Oct 13, 2022 (156)
130	HUGCELL_USP	ss5458938120	Oct 13, 2022 (156)
131	EVA	ss5507642749	Oct 13, 2022 (156)
132	1000G_HIGH_COVERAGE	ss5541968475	Oct 13, 2022 (156)
133	EVA	ss5624141415	Oct 13, 2022 (156)
134	SANFORD_IMAGENETICS	ss5635670473	Oct 13, 2022 (156)
135	TOMMO_GENOMICS	ss5701822472	Oct 13, 2022 (156)
136	EVA	ss5799423336	Oct 13, 2022 (156)
137	EVA	ss5800053121	Oct 13, 2022 (156)
138	EVA	ss5800117082	Oct 13, 2022 (156)
139	YY_MCH	ss5805355943	Oct 13, 2022 (156)
140	EVA	ss5844427907	Oct 13, 2022 (156)
141	EVA	ss5848019449	Oct 13, 2022 (156)
142	EVA	ss5848613787	Oct 13, 2022 (156)
143	EVA	ss5854357221	Oct 13, 2022 (156)
144	EVA	ss5864686324	Oct 13, 2022 (156)
145	EVA	ss5936525399	Oct 13, 2022 (156)
146	EVA	ss5964061482	Oct 13, 2022 (156)
147	EVA	ss5980240371	Oct 13, 2022 (156)
148	1000Genomes	NC_000004.11 - 100516022	Oct 12, 2018 (152)
149	1000Genomes_30x	NC_000004.12 - 99594865	Oct 13, 2022 (156)
150	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 100516022	Oct 12, 2018 (152)
151	Genetic variation in the Estonian population	NC_000004.11 - 100516022	Oct 12, 2018 (152)
152	ExAC	NC_000004.11 - 100516022	Oct 12, 2018 (152)
153	FINRISK	NC_000004.11 - 100516022	Apr 26, 2020 (154)
154	The Danish reference pan genome	NC_000004.11 - 100516022	Apr 26, 2020 (154)
155	gnomAD - Genomes	NC_000004.12 - 99594865	Apr 26, 2021 (155)
156	gnomAD - Exomes	NC_000004.11 - 100516022	Jul 13, 2019 (153)
157	GO Exome Sequencing Project	NC_000004.11 - 100516022	Oct 12, 2018 (152)
158	Genome of the Netherlands Release 5	NC_000004.11 - 100516022	Apr 26, 2020 (154)
159	HapMap	NC_000004.12 - 99594865	Apr 26, 2020 (154)
160	KOREAN population from KRGDB	NC_000004.11 - 100516022	Apr 26, 2020 (154)
161	Korean Genome Project	NC_000004.12 - 99594865	Apr 26, 2020 (154)
162	Medical Genome Project healthy controls from Spanish population	NC_000004.11 - 100516022	Apr 26, 2020 (154)
163	Northern Sweden	NC_000004.11 - 100516022	Jul 13, 2019 (153)
164	The PAGE Study	NC_000004.12 - 99594865	Jul 13, 2019 (153)
165	CNV burdens in cranial meningiomas	NC_000004.11 - 100516022	Apr 26, 2021 (155)
166	Qatari	NC_000004.11 - 100516022	Apr 26, 2020 (154)
167	SGDP_PRJ	NC_000004.11 - 100516022	Apr 26, 2020 (154)
168	Siberian	NC_000004.11 - 100516022	Apr 26, 2020 (154)
169	8.3KJPN	NC_000004.11 - 100516022	Apr 26, 2021 (155)
170	14KJPN	NC_000004.12 - 99594865	Oct 13, 2022 (156)
171	TopMed	NC_000004.12 - 99594865	Apr 26, 2021 (155)
172	UK 10K study - Twins	NC_000004.11 - 100516022	Oct 12, 2018 (152)
173	A Vietnamese Genetic Variation Database	NC_000004.11 - 100516022	Jul 13, 2019 (153)
174	ALFA	NC_000004.12 - 99594865	Apr 26, 2021 (155)
175	ClinVar	RCV000117640.7	Oct 13, 2022 (156)
176	ClinVar	RCV000348296.8	Oct 13, 2022 (156)
177	ClinVar	RCV001522093.7	Oct 13, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs17599155	Oct 07, 2004 (123)
rs52823538	Sep 21, 2007 (128)
rs56751900	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80423078	NC_000004.9:100873199:C:G	NC_000004.12:99594864:C:G	(self)
ss110294488, ss117114556, ss160535012, ss162382555, ss163920978, ss166946811, ss198924270, ss206352850, ss244289976, ss277845503, ss284968270, ss293148035, ss484659672, ss491857861, ss1589957273	NC_000004.10:100735044:C:G	NC_000004.12:99594864:C:G	(self)
22431618, 12478678, 8849129, 7557964, 32014, 6853723, 3759994, 493667, 5516564, 13070440, 183107, 4709187, 81686, 5734903, 11632694, 3078248, 25057637, 12478678, 2745655, ss221100000, ss232516233, ss239780910, ss342168433, ss481354426, ss483996143, ss490892028, ss491358954, ss536189294, ss557722974, ss651527280, ss780634467, ss780831176, ss782442343, ss783514136, ss783603841, ss836128453, ss974453484, ss980453143, ss1067463187, ss1071789244, ss1310989076, ss1429983795, ss1580688784, ss1584035553, ss1610741943, ss1653735976, ss1687585758, ss1711067347, ss1752489395, ss1801913116, ss1917783206, ss1923692973, ss1946123164, ss1958707228, ss1969817499, ss2022432688, ss2150561894, ss2625715288, ss2634154868, ss2706038455, ss2729283739, ss2734651952, ss2747279453, ss2812881778, ss2985298984, ss2995214725, ss3022398888, ss3023060787, ss3345863218, ss3629026113, ss3629026114, ss3632089176, ss3634963636, ss3636667937, ss3640670929, ss3644855960, ss3646310759, ss3652885153, ss3654070857, ss3663110881, ss3731424322, ss3744528193, ss3745263892, ss3762169710, ss3772758430, ss3784802465, ss3790247042, ss3795122441, ss3824035470, ss3825522045, ss3825538322, ss3825661772, ss3828705110, ss3859615714, ss3905893046, ss3984290155, ss3984290156, ss3984532325, ss3986287457, ss5167088330, ss5314977735, ss5350990525, ss5507642749, ss5624141415, ss5635670473, ss5799423336, ss5800053121, ss5800117082, ss5844427907, ss5848019449, ss5848613787, ss5936525399, ss5964061482, ss5980240371	NC_000004.11:100516021:C:G	NC_000004.12:99594864:C:G	(self)
RCV000117640.7, RCV000348296.8, RCV001522093.7, 29494410, 158904256, 2670772, 11124343, 364254, 35659576, 462104409, 7502941190, ss1457614645, ss2265445506, ss3024991658, ss3647803312, ss3712661841, ss3726155957, ss3771142785, ss3805318123, ss3954746342, ss4624726853, ss5141912348, ss5237183005, ss5237642581, ss5260296368, ss5314411115, ss5458938120, ss5541968475, ss5701822472, ss5805355943, ss5854357221, ss5864686324	NC_000004.12:99594864:C:G	NC_000004.12:99594864:C:G	(self)
ss11684928	NT_016354.15:25010725:C:G	NC_000004.12:99594864:C:G	(self)
ss22088837	NT_016354.16:25010725:C:G	NC_000004.12:99594864:C:G	(self)
ss3254694, ss22887573, ss24366024, ss44554337, ss48430019, ss65726838, ss68906302, ss74809309, ss98848107, ss104099168, ss135207205, ss157653903, ss159708141	NT_016354.19:25063742:C:G	NC_000004.12:99594864:C:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs2306985

PMID	Title	Author	Year	Journal
19878569	Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.	Chen SN et al.	2009	BMC medical genetics
31321587	MTTP polymorphisms and hepatic steatosis in individuals chronically infected with hepatitis C virus.	Prata TVG et al.	2019	Archives of virology

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2306985